title: Pfeiffer syndrome type 2: further delineation and review of the literature.
abstract: We present 5 unrelated patients, 3 boys and 2 girls, with Pfeiffer syndrome (PS) type 2. They all had cloverleaf skull, severe proptosis, ankylosis of the elbows, broad thumbs and/or broad halluces and variable accompanying anomalies. We review the literature on all subtypes of PS. Most patients with PS type 2 died shortly after birth. Causes of death include pulmonary problems, brain abnormalities, prematurity and post-operative complications. DNA studies were performed in 3 of the 5 patients. Two of them showed a 1036T --> C mutation in the fibroblast growth factor receptor 2 (FGFR2) gene, that was earlier reported in PS and in Crouzon syndrome. Probably most, if not all, PS type 2 cases are caused by a de novo mutation in the FGFR2 gene or in another, yet unidentified gene. To date all type 2 cases have been non-familial. A low recurrence risk for parents can be advised.
authors.affiliation: Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.
authors.forename: A S
authors.initials: AS
authors.lastname: Plomp
authors.forename: B C
authors.initials: BC
authors.lastname: Hamel
authors.forename: J M
authors.initials: JM
authors.lastname: Cobben
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: J P
authors.initials: JP
authors.lastname: Offermans
authors.forename: E
authors.initials: E
authors.lastname: Lajeunie
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: C E
authors.initials: CE
authors.lastname: de Die-Smulders
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000168:Acrocephalosyndactylia / Q000145:classification / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005313:Fetal Death / Q000235:genetics; D005346:Fibroblast Growth Factors / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D005346:Fibroblast Growth Factors; C496348:FGFR1 protein, human; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2